| Primary Identifier | MGI:2179277 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 246103 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Acts upstream of or within negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system; and retina. Used to study spinocerebellar ataxia type 7. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 7. Orthologous to human ATXN7 (ataxin 7). PHENOTYPE: Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
